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Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group, Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND, Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortium. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1466-1469. doi: 10.1038/s41431-021-00934-6. Eur J Hum Genet. 2021. PMID: 34393220 Free PMC article. No abstract available.
Performance of five pulse oximeters to detect hypoxaemia as an indicator of severe illness in children under five by frontline health workers in low resource settings - A prospective, multicentre, single-blinded, trial in Cambodia, Ethiopia, South Sudan, and Uganda.
Baker K, Petzold M, Mucunguzi A, Wharton-Smith A, Dantzer E, Habte T, Matata L, Nanyumba D, Okwir M, Posada M, Sebsibe A, Nicholson J, Marasciulo M, Izadnegahdar R, Alfvén T, Källander K. Baker K, et al. Among authors: posada m. EClinicalMedicine. 2021 Jul 22;38:101040. doi: 10.1016/j.eclinm.2021.101040. eCollection 2021 Aug. EClinicalMedicine. 2021. PMID: 34368660 Free PMC article.
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group, Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA, Trimouille A, Kleefstra T, Verloes A, Vissers LELM. de Boer E, et al. Eur J Hum Genet. 2021 Sep;29(9):1470-1471. doi: 10.1038/s41431-021-00937-3. Eur J Hum Genet. 2021. PMID: 34267341 Free PMC article. No abstract available.
Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU Project.
Micai M, Ciaramella A, Salvitti T, Fulceri F, Fatta LM, Poustka L, Diehm R, Iskrov G, Stefanov R, Guillon Q, Rogé B, Staines A, Sweeney MR, Boilson AM, Leósdóttir T, Saemundsen E, Moilanen I, Ebeling H, Yliherva A, Gissler M, Parviainen T, Tani P, Kawa R, Vicente A, Rasga C, Budişteanu M, Dale I, Povey C, Flores N, Jenaro C, Monroy ML, Primo PG, Charman T, Cramer S, Warberg CK, Canal-Bedia R, Posada M, Scattoni ML, Schendel D. Micai M, et al. Among authors: posada m. Front Psychiatry. 2021 May 28;12:614102. doi: 10.3389/fpsyt.2021.614102. eCollection 2021. Front Psychiatry. 2021. PMID: 34122158 Free PMC article.
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group, Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA, Trimouille A, Kleefstra T, Verloes A, Vissers LELM. de Boer E, et al. Eur J Hum Genet. 2021 Sep;29(9):1359-1368. doi: 10.1038/s41431-021-00900-2. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075211 Free PMC article.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group, Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND, Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
Intervention Services for Autistic Adults: An ASDEU Study of Autistic Adults, Carers, and Professionals' Experiences.
Micai M, Ciaramella A, Salvitti T, Fulceri F, Fatta LM, Poustka L, Diehm R, Iskrov G, Stefanov R, Guillon Q, Rogé B, Staines A, Sweeney MR, Boilson AM, Leósdóttir T, Saemundsen E, Moilanen I, Ebeling H, Yliherva A, Gissler M, Parviainen T, Tani P, Kawa R, Vicente A, Rasga C, Budişteanu M, Dale I, Povey C, Flores N, Jenaro C, Monroy ML, Primo PG, Charman T, Cramer S, Warberg CK, Canal-Bedia R, Posada M, Scattoni ML, Schendel D. Micai M, et al. Among authors: posada m. J Autism Dev Disord. 2021 May 8. doi: 10.1007/s10803-021-05038-0. Online ahead of print. J Autism Dev Disord. 2021. PMID: 33966137
Cost-of-illness studies in rare diseases: a scoping review.
García-Pérez L, Linertová R, Valcárcel-Nazco C, Posada M, Gorostiza I, Serrano-Aguilar P. García-Pérez L, et al. Among authors: posada m. Orphanet J Rare Dis. 2021 Apr 13;16(1):178. doi: 10.1186/s13023-021-01815-3. Orphanet J Rare Dis. 2021. PMID: 33849613 Free PMC article. Review.
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